Variant report

Variant	nsv1061528
Chromosome Location	chr19:22081275-22104599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF257-1	chr19:22100052-22101719	XLOC_013010
2	lnc-ZNF257-1	chr19:22085706-22085729	XLOC_013010
3	lnc-ZNF257-4	chr19:22099324-22099462	NONHSAT063754
4	lnc-ZNF257-4	chr19:22097817-22098563	NONHSAT063754

Extended variants
information (count: 304 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554498953	chr19:22082811-22082812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143270483	chr19:22082818-22082819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116630713	chr19:22082883-22082884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565174649	chr19:22082902-22082903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541457260	chr19:22082913-22082914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139120010	chr19:22082922-22082923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563056350	chr19:22082954-22082955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73552281	chr19:22082967-22082968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546815406	chr19:22082983-22082984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559748918	chr19:22082991-22082992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147455525	chr19:22083065-22083066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182042030	chr19:22083091-22083092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567261432	chr19:22083101-22083102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528228831	chr19:22083108-22083109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114158381	chr19:22083115-22083116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187652894	chr19:22083130-22083131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538468681	chr19:22083149-22083150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557074510	chr19:22083170-22083171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10406494	chr19:22083222-22083223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189844236	chr19:22083287-22083288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554586636	chr19:22083368-22083369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555066493	chr19:22083378-22083379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572887737	chr19:22083430-22083431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140621870	chr19:22083436-22083437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370471547	chr19:22083451-22083452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558649206	chr19:22083461-22083462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577233273	chr19:22083486-22083487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs391264	chr19:22083490-22083491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs180692611	chr19:22083526-22083527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185352471	chr19:22083531-22083532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542524186	chr19:22083535-22083536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536549573	chr19:22083545-22083546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560895288	chr19:22083560-22083561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571888823	chr19:22083653-22083654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78325576	chr19:22083666-22083667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71178790	chr19:22083668-22083669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56906217	chr19:22083669-22083670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs391190	chr19:22083682-22083683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs114642507	chr19:22083730-22083731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564836900	chr19:22083738-22083739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73930134	chr19:22083756-22083757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs391527	chr19:22083788-22083789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190111924	chr19:22083819-22083820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536190566	chr19:22083887-22083888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141298790	chr19:22083931-22083932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528336802	chr19:22083944-22083945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546199350	chr19:22083968-22083969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73930135	chr19:22083970-22083971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138999787	chr19:22089607-22089608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149873766	chr19:22089621-22089622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22082800-22084000	Enhancers	Placenta	Placenta
2	chr19:22089600-22090800	ZNF genes & repeats	Placenta	Placenta
3	chr19:22091200-22091800	Active TSS	Fetal Heart	heart
4	chr19:22093000-22093600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr19:22100600-22102400	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:22101800-22102600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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